Tay-Sachs Disease

Tay Sachs disease is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. Discover the latest research on Tay-Sachs disease here.

January 14, 2022

A Recombinant Ig Fragment (IgCw-γεκ) Comprising the Cγ1-Cε2-4 and Cκ Domains Is an Alternative Reagent to Human IgE.

The Journal of Immunology : Official Journal of the American Association of Immunologists
Minjae KimMyung-Hee Kwon
January 12, 2022
Review
Open Access

Checkpoints That Regulate Balanced Biosynthesis of Lipopolysaccharide and Its Essentiality in Escherichia coli.

International Journal of Molecular Sciences
Gracjana KleinSatish Raina
December 25, 2021

Effect of two preservation methods on the viability and enzyme production of a recombinant Komagataella phaffii (Pichia pastoris) strain.

Cryobiology
Angela María Alvarado-FernándezAlba Alicia Trespalacios-Rangel
December 23, 2021
Preprint
Open Access

Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis

BioRxiv : the Preprint Server for Biology
D. SalaAngela Gritti
December 17, 2021

Response to Letter to the Editor: Secondary ganglioside GM2 accumulation in mucopolysaccharidoses.

Molecular Genetics and Metabolism Reports
Ainslie L K Derrick-Roberts
December 10, 2021

Multifunctional fluorescent probes for high-throughput characterization of hexosaminidase enzyme activity.

Bioorganic Chemistry
Shaochi WangMyles B Poulin
December 3, 2021

Maternal, infant, and environmental risk factors for sudden unexpected infant deaths: results from a large, administrative cohort.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Gretchen BandoliChristina D Chambers
December 3, 2021
Case Report

Atypical presentation of late-onset Sandhoff disease: a case report.

Ideggyógyászati szemle
András SalamonPéter Klivényi
December 1, 2021

FcεRI Cluster Size Determines Effective Mast Cell Desensitization without Effector Responses in vitro.

International Archives of Allergy and Immunology
Yuka Nagata, Ryo Suzuki
November 29, 2021

A collaborative genetic carrier screening model for the British Ashkenazi Jewish community.

Journal of Community Genetics
Monica Ziff, Juliette Harris
November 28, 2021
Open Access

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.

Cells
Beatriz Castejón-VegaMario D Cordero
November 21, 2021

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Jitka MájovskáPetr Dušek
November 21, 2021

Hexosaminidase A (HEXA) regulates hepatic sphingolipid and lipoprotein metabolism in mice.

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
Magdalene K MontgomeryMatthew J Watt

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